Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: A low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa

Arthritis and Rheumatism

Volumn 50, Issue 6, 2004, Pages 1951-1958

  Stojanov, Silvia ^a   Lohse, Peter ^a   Lohse, Pia ^a   Hoffmann, Florian ^a   Renner, Ellen D ^a   Zellerer, Stephanie ^a   Kéry, Anja ^a   Shin, Yoon S ^a   Haas, Dorothea ^b   Hoffmann, Georg F ^b   Belohradsky, Bernd H ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; IMMUNOGLOBULIN D; MEVALONATE KINASE; MEVALONIC ACID; PHOSPHOTRANSFERASE; TRYPTOPHAN; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; FEMALE; FEVER; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERIMMUNOGLOBULINEMIA; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; MALE; MVK GENE; PHENOTYPE; PRIORITY JOURNAL; STOP CODON; SYNDROME; TNFRSF1A GENE; TUMOR NECROSIS FACTOR ASSOCIATED PERIODIC SYNDROME;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANTIGENS, CD; CHILD; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HETEROZYGOTE; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN D; KIDNEY; MALE; PENETRANCE; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RECEPTORS, TUMOR NECROSIS FACTOR; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; RNA SPLICE SITES;

EID: 2642580946     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.20264     Document Type: Article

References (24)

1. Drenth JP, Haagsma CJ, van der Meer JW, the International Hyper-IgD Study Group. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine (Baltimore) 1994;73:133-44.
2. Czap C, Ko HK, Eife R, Belohradsky BH. Periodisches Fieber mit unstillbarem Erbrechen. Monatsschr Kinderheilkd 1997;145:117-9.
3. Drenth JP, van der Meer JW. Hereditary periodic fever. N Engl J Med 2001;345:1748-57.
4. Drenth JP, Cuisset L, Grateau G, Vasseur C, van der Velde-Visser SD, de Jong JG, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999;22:178-81.
5. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999;22:175-7.
6. Houten SM, Koster J, Romeijn GJ, Frenkel J, di Rocco M, Caruso U, et al. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet 2001;9:253-9.
7. Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993;91:915-21.
8. Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, et al. Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. Hum Mol Genet 1999;8:1523-8.
9. Simon A, Cuisset L, Vincent MF, van der Velde-Visser SD, Delpech M, van der Meer JW, et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med 2001;135:338-43.
10. Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, et al. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinemia D. Rheumatology (Oxford) 2001;40:579-84.
11. McDermott MF. Genetic clues to understanding periodic fevers, and possible therapies. Trends Mol Med 2002;8:550-4.
12. Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001;69:301-14.
13. Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002;130:484-8.
14. Hoffmann GF, Brendel SU, Scharfschwerdt SR, Shin YS, Speidel IM, Gibson KM. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J Inherit Metab Dis 1992;15:738-46.
15. Shin YS. Galactose metabolites and disorders of galactose metabolism. In: Hommes FA, editor. Techniques in diagnostic human biomedical genetics. New York: Wiley-Liss; 1990. p. 267-84.
16. Hoffmann GF, Sweetman L, Bremer HJ, Hunnemann DH, Hyanek J, Kozich V, et al. Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta 1991;198: 208-28.
17. Sarrauste de Menthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I. INFEVERS: the registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 2003;31:282-5.
18. Potter D, Miziorko HM. Identification of catalytic residues in human mevalonate kinase. J Biol Chem 1997;272:25449-54.
19. Cho YK, Rios SE, Kim JJ, Miziorko HM. Investigation of invariant serine/threonine residues in mevalonate kinase. Tests of the functional significance of a proposed substrate binding motif and a site implicated in human inherited disease. J Biol Chem 2001; 276:12573-8.
20. Fu Z, Wang M, Potter D, Miziorko HM, Kim JJ. The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease. J Biol Chem 2002;277:18134-42.
21. Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde-Visser S, van der Meer JW, et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001;9:260-6.
22. Houten SM, van Woerden CS, Wijburg FA, Wanders RJ, Waterham HR. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 2002;11:196-200.
23. Dode C, Andre M, Bienvenu T, Hausfater P, Pecheux C, Bienvenu J, et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002;46:2181-8.
24. Houten SM, Frenkel J, Rijkers GT, Wanders RJ, Kuis W, Waterham HR. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 2002;11:3115-24.